R178G (p.Arg178Gly) variant of GCH1 (GTP cyclohydrolase 1)
R178G (p.Arg178Gly) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; GTP cyclohydrolase I deficiency; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R178G (p.Arg178Gly) variant details
- p.Arg178Gly
- rs1594971274
- ClinGen CA389787465
- ClinVar RCV001756637
- ClinVar RCV001861054
- Conflicting interpretations
- not provided; GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.94
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; GTP cyclohydrolase I deficiency; Dystonia 5)
- EBI: Pathogenic (in DRD)
- UniProt: Pathogenic (in DRD)
- Population evidence available
- Structural context available
- Cited in: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. (PMID 20301681)
- Cited in: EFNS guidelines on diagnosis and treatment of primary dystonias. (PMID 20482602)